Mental retardation and psychosis in VCFS From the 22q11 deletion ...

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DISEASES ASSOCIATED CNVs (11/28)Patients with autism16/2606.1%Patients with MR13/2475.3%Patients with SZ10/2364.2%Significant excess of these CNVs in each disease groupas compared with controls(p value < 0.001, p=0.001 and p= 0.01 respectively, Fisher exact test)Individual significance for association between the 350kb PRODHdeletion and autism ( p=0.02)
DISEASES ASSOCIATED CNVs: AUTISMID ChromosomallocationSize Genes involved Type TransmissionT35 2p16.3
Page 1 and 2: !Mental retardation and psychosis i
Page 3 and 4: 14,5715,515,615,815,9616,0316,2616,
Page 5 and 6: MISSENSE MUTATIONS IN THE PRODH GEN
Page 7 and 8: MOLECULAR BASIS OF TYPE IHYPERPROLI
Page 9 and 10: CORRELATION BETWEEN HYPERPROLINEMIA
Page 11 and 12: VCFS SUBJECTS WITH SEVERE HYPERPROL
Page 13 and 14: SEVERE HYPERPROLINEMIA IS ASSOCIATE
Page 15 and 16: THE OPPOSITE STRATEGY: SEARCH FORPR
Page 17 and 18: TARGETED ANALYSIS28 candidate loci
Page 19: SUBJECTS 247 patients with mental r
Page 23 and 24: CONCLUSION• Type I hyperprolinemi

Mental retardation and psychosis in VCFS From the 22q11 deletion ...

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